ClinVar (all) for Orgtrack (Select 507452) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690935	GRCh37/hg19 15q13.2-13.3(chr15:30730511-32914199)x3	ARHGAP11A, ARHGAP11B +11 more	Copy number gain	See cases	GUncertain significance
Select item 2683737	GRCh37/hg19 4q13.3(chr4:71271311-71502766)x1	AMBN, AMTN +4 more	Copy number loss	See cases	GUncertain significance
Select item 2672056	GRCh37/hg19 Xp22.11-21.3(chrX:24823572-25117528)x2	ARX, POLA1	Copy number gain	Intellectual disability, X-linked, with or without seizures, arx-related	GLikely pathogenic
Select item 2672055	GRCh37/hg19 20q13.33(chr20:61704244-62169893)x3	ARFGAP1, BIRC7 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2664347	GRCh37/hg19 12p13.33(chr12:2775404-3044582)x3	CACNA1C, FKBP4 +6 more	Copy number gain	See cases	GLikely benign
Select item 2664346	GRCh37/hg19 13q22.2-22.3(chr13:76441389-78303365)x3	ACOD1, CLN5 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2627559	GRCh37/hg19 15q13.2-13.3(chr15:30653877-32914199)x3	MIR211, MTMR10 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2580893	GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	ARPC4, ARPC4-TTLL3 +29 more	Copy number loss	3p- syndrome	GPathogenic
Select item 2579657	GRCh37/hg19 Xp22.11(chrX:23209046-23383351)	PTCHD1	Copy number loss	Autism, susceptibility to, X-linked 4	GPathogenic
Select item 2578330	GRCh37/hg19 14q32.2-32.31(chr14:100397006-101488936)x1	BEGAIN, DEGS2 +25 more	Copy number loss	Motor developmental delay due to 14q32.2 paternally expressed gene defect	GPathogenic
Select item 2576522	GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1	ALDOA, ASPHD1 +28 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2575077	GRCh37/hg19 2q37.1(chr2:232563726-234136887)x3	ALPG, ALPI +19 more	Copy number gain	See cases	GUncertain significance
Select item 2573338	GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3	HBB, HBE1 +25 more	Copy number gain	See cases	GLikely benign
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2572375	GRCh37/hg19 15q26.3(chr15:99021824-101196161)x1	ADAMTS17, ASB7 +9 more	Copy number loss	See cases	GPathogenic
Select item 2506583	GRCh37/hg19 1p36.32(chr1:2582760-3177921)x3	ACTRT2, PRDM16 +1 more	Copy number gain	See cases	GLikely benign
Select item 2504594	GRCh37/hg19 7q36.2-36.3(chr7:154672988-155411249)x3	PAXIP1, RBM33 +4 more	Copy number gain	See cases	GUncertain significance
Select item 2503487	GRCh37/hg19 2p21(chr2:47511660-47641537)x1	BCYRN1, EPCAM +1 more	Copy number loss	Lynch syndrome 1	GPathogenic
Select item 2503483	GRCh37/hg19 2p21(chr2:47547722-47641537)x1	BCYRN1, EPCAM +1 more	Copy number loss	Lynch syndrome 1	GPathogenic
Select item 2502861	GRCh37/hg19 2q34-35(chr2:215074747-216700700)x1	ABCA12, ATIC +4 more	Copy number loss	See cases	GLikely benign
Select item 2501299	GRCh37/hg19 Xq28(chrX:148564272-148836483)	EOLA1, HSFX1 +5 more	Copy number gain	See cases	GLikely benign
Select item 2500799	GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)x1	CYB5A, PARD6G +33 more	Copy number loss	Deletion of long arm of chromosome 18	GPathogenic
Select item 2499479	GRCh37/hg19 5q21.3-22.1(chr5:108634380-110629961)x3	CAMK4, MAN2A1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 2499478	GRCh37/hg19 1p31.1(chr1:81453096-81923631)x3		Copy number gain	See cases	GLikely benign
Select item 2498336	GRCh37/hg19 4q32.3-34.1(chr4:169709270-171996798)x1	AADAT, CBR4 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2498333	GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1	CEP162, CYB5R4 +18 more	Copy number loss	See cases	GPathogenic
Select item 2498332	GRCh37/hg19 5p13.2(chr5:36780915-37073813)x3	CPLANE1, NIPBL	Copy number gain	Chromosome 5p13 duplication syndrome	GPathogenic
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 2446726	GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3	DZIP1, ERCC5 +35 more	Copy number gain	See cases	GPathogenic
Select item 2446725	GRCh37/hg19 16q23.3(chr16:82185047-83663374)x1	CDH13, LOC101928417 +1 more	Copy number loss	See cases	GUncertain significance
Select item 2446724	GRCh37/hg19 5p15.2-15.1(chr5:10165922-18156739)x3	BASP1, RETREG1 +19 more	Copy number gain	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	GPathogenic
Select item 2446468	GRCh37/hg19 Xp21.3-21.2(chrX:28983262-29783445)x1	IL1RAPL1	Copy number loss	See cases	GPathogenic
Select item 2446467	GRCh37/hg19 15q13.2-13.3(chr15:30921917-32514980)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2446383	GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1	MAVS, OXT +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 1686655	GRCh37/hg19 2p24.1-23.3(chr2:22439520-25608211)x1	FAM228A, FAM228B +19 more	Copy number loss	2p24.1p23.3 microdeletion syndrome	GPathogenic
Select item 1679188	GRCh37/hg19 2p16.3(chr2:50671549-50860852)x1	NRXN1	Copy number loss	del2p16.3	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1339340	GRCh37/hg19 2q24.1(chr2:157058119-157183736)x1	NR4A2	Copy number loss	Complex neurodevelopmental disorder	GPathogenic
Select item 1330307	GRCh37/hg19 16p11.2(chr16:29590554-30197341)x3	PPP4C, PRRT2 +25 more	Copy number gain	16p11.2 duplication syndrome	GPathogenic
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 1320278	GRCh37/hg19 7p21.3-21.2(chr7:8980970-14085991)x3	ARL4A, ETV1 +6 more	Copy number gain	7p21.3p21.2 microduplication	GLikely pathogenic
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 1220535	GRCh37/hg19 19q13.33(chr19:50071364-50165942)x1	IRF3, NOSIP +4 more	Copy number loss	See cases	GLikely pathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1217224	GRCh37/hg19 3q29(chr3:196539700-196612739)x1	PAK2, SENP5	Copy number loss	del3q29	GUncertain significance
Select item 1209858	GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1	BEX3, BEX4 +110 more	Copy number loss	Xq21.32q23 deletion	GPathogenic
Select item 1209857	GRCh37/hg19 13q12.2-12.3(chr13:28669064-31367407)x1	ALOX5AP, FLT1 +11 more	Copy number loss	13q12.2q12.3 deletion	GLikely pathogenic
Select item 1209855	GRCh37/hg19 9p23(chr9:13862493-14155897)x1	NFIB	Copy number loss	9p23 dn microdeletion	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 1077161	GRCh37/hg19 3q13.31(chr3:113623035-114368128)x1	CCDC191, DRD3 +6 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 981056	GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)	COPRS, LRRC37B +12 more	Copy number loss	Nanophthalmos 4 +2 more	GPathogenic
Select item 977791	GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226)	SLC18A3, SYT15 +33 more	Copy number loss	10q11.22q11.23 microdeletion including CHAT and SLC18A3	GPathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 977789	GRCh37/hg19 8q12.1-12.3(chr8:60026663-63779735)	TOX, CLVS1 +5 more	Copy number gain	duplication 8q12	GLikely pathogenic
Select item 977788	GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516)	PPP2R2C, RGS12 +32 more	Copy number loss	microdeletion 4p16.3p16.1	GLikely pathogenic
Select item 975814	GRCh37/hg19 14q11.2(chr14:21887312-21918282)	CHD8	Copy number loss	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic

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Items: 58